Entity Name	Entity type	Gene Symbol	Sources(; separated)	Level4	Level3	Level2	Model_Of_Inheritance	Phenotypes	Omim	Orphanet	HPO	Publications	Description	Flagged	GEL_Status	UserRatings_Green_amber_red	version	ready	Mode of pathogenicity	EnsemblId(GRch37)	EnsemblId(GRch38)	HGNC	Position Chromosome	Position GRCh37 Start	Position GRCh37 End	Position GRCh38 Start	Position GRCh38 End	STR Repeated Sequence	STR Normal Repeats	STR Pathogenic Repeats	Region Haploinsufficiency Score	Region Triplosensitivity Score	Region Required Overlap Percentage	Region Variant Type	Region Verbose Name
GRK2	gene	GRK2	Expert Review Amber;Literature	Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770			Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591	33200460		False	2	0;100;0	1.15	True		ENSG00000173020	ENSG00000173020	HGNC:289													
HYLS1	gene	HYLS1	Expert Review Amber;Victorian Clinical Genetics Services	Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Hydrolethalus syndrome, MIM# 236680			Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591			False	2	0;100;0	1.15	True		ENSG00000198331	ENSG00000198331	HGNC:26558													
KIAA0586	gene	KIAA0586	Expert Review Amber;Victorian Clinical Genetics Services	Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546			Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591	26166481		False	2	0;100;0	1.15	True		ENSG00000100578	ENSG00000100578	HGNC:19960													
KIF7	gene	KIF7	Expert Review Amber;Victorian Clinical Genetics Services	Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Acrocallosal syndrome, MIM# 200990;Joubert syndrome 12, MIM# 200990			Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591			False	2	0;100;0	1.15	True		ENSG00000166813	ENSG00000166813	HGNC:30497													
OFD1	gene	OFD1	Expert Review Amber;Victorian Clinical Genetics Services	Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy		Skeletal disorders	Other	Orofaciodigital syndrome I, MIM# 311200			Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591			False	2	0;100;0	1.15	True		ENSG00000046651	ENSG00000046651	HGNC:2567													
PDIA6	gene	PDIA6	Expert Review Amber;Literature	Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes			Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591	PMID: 33495992		False	2	0;50;50	1.15	True		ENSG00000143870	ENSG00000143870	HGNC:30168													
WDR19	gene	WDR19	Expert Review Amber;Victorian Clinical Genetics Services	Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy		Skeletal disorders	BIALLELIC, autosomal or pseudoautosomal	Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376			Short rib;HP:0000773; Polydactyly;HP:0010442; Bell-shaped thorax;HP:0001591	22019273		False	2	0;100;0	1.15	True		ENSG00000157796	ENSG00000157796	HGNC:18340